Canonical Allele Identifier: CA221177

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423039G>A , CM000681.2:g.41423039G>A	GRCh38
NC_000019.9:g.41928944G>A , CM000681.1:g.41928944G>A	GRCh37
NC_000019.8:g.46620784G>A	NCBI36
NG_013004.1:g.30251G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1037G>A MANE Select	NP_000700.1:p.Arg346His
ENST00000269980.7:c.1037G>A MANE Select	ENSP00000269980.2:p.Arg346His
NM_000709.3:c.1037G>A	NP_000700.1:p.Arg346His
NM_001164783.1:c.1034G>A	NP_001158255.1:p.Arg345His
NM_001164783.2:c.1034G>A	NP_001158255.1:p.Arg345His
ENST00000269980.6:c.1037G>A	ENSP00000269980.2:p.Arg346His
ENST00000457836.6:c.1046G>A	ENSP00000416000.2:p.Arg349His
ENST00000540732.3:c.1139G>A	ENSP00000443246.1:p.Arg380His
ENST00000542943.5:c.950G>A	ENSP00000440345.1:p.Arg317His
ENST00000595085.5:c.922+342G>A	ENSP00000471150.2:n.922+342G>A